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Updated: May 3, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

[Enzyme replacement therapy for hypophosphatasia].

Keiichi Ozono¹

¹Department of Pediatrics, Osaka University Graduate School of Medicine, Japan.

Clinical Calcium

|January 30, 2014

Summary

Enzyme replacement therapy using bone-targeting recombinant alkaline phosphatase (ALP) shows promise for treating hypophosphatasia, a condition causing impaired bone calcification. Clinical trials indicate efficacy and safety, with expanded trials ongoing.

Area of Science:

Biochemistry
Genetics
Pediatrics

Context:

Hypophosphatasia (HPP) is a rare genetic disorder.
It results from mutations in the gene encoding tissue-nonspecific alkaline phosphatase (ALP).
This leads to impaired bone mineralization and severe health complications, particularly in infants.

Purpose:

To evaluate the efficacy and safety of enzyme replacement therapy (ERT) for hypophosphatasia.
To investigate the use of a bone-targeting recombinant ALP in treating HPP.
To assess the therapeutic potential of ERT in preclinical models and clinical trials.

Summary:

Abnormal tissue-nonspecific alkaline phosphatase (ALP) causes hypophosphatasia, leading to impaired bone calcification and high infant mortality.
A novel bone-targeting recombinant ALP has been developed for enzyme replacement therapy (ERT).

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Published on: July 3, 2020

ERT demonstrated efficacy in hypophosphatasia model mice and has shown positive results in clinical trials for perinatal and infantile HPP.

Impact:

ERT offers a potential therapeutic strategy for hypophosphatasia, addressing a critical unmet medical need.
Successful clinical trials could lead to an approved treatment for severe forms of HPP.
Ongoing expanded trials aim to further establish the long-term safety and efficacy of this innovative therapy.